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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
steroid 5 alpha-reductase 3
Summary
- Gene Symbol
-
- SRD5A3
- Aliases
-
- 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))
- FLJ13352
- SRD5A2L
- SRD5A2L1
- polyprenol reductase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cataract
- Congenital disorder of glycosylation
- Endoplasmic reticulum
- Intellectual disability
- Lipid metabolism
- NADP
- Oxidoreductase
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H8P0 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| dolichyl diphosphate biosynthetic process |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
| polyprenol reductase activity | ||
| 3-oxo-5-alpha-steroid 4-dehydrogenase activity | ||
| 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060870 | isolated growth hormone deficiency | |
| DOID:0070129 | autosomal recessive cutis laxa type IID | |
| DOID:0070130 | autosomal dominant cutis laxa 1 | |
| DOID:0070131 | autosomal dominant cutis laxa 3 | |
| DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
| DOID:0070133 | autosomal recessive cutis laxa type IB | |
| DOID:0070134 | autosomal recessive cutis laxa type IIA | |
| DOID:0070135 | autosomal recessive cutis laxa type IA | |
| DOID:0070136 | autosomal dominant cutis laxa 2 | |
| DOID:0070137 | autosomal recessive cutis laxa type IIB |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000248 | Brachycephaly |
| HP:0000316 | Hypertelorism |
| HP:0000329 | Facial hemangioma |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000518 | Cataract |
| Disease ID | Disease Name |
|---|---|
| OMIM:612379 |
|
| ORPHA:324737 |
|
| OMIM:612713 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP003856
- Gene Name
- steroid 5 alpha-reductase 3
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100604898 | NOMLE37367 | ||
| 114603835 | PODMU29949 | ||
| 107573990 | SINGR100821 | ||
| 106836922 | EQUAS24658 | ||
| 116826032 | CHEAB26974 | ||
| 115042353 | ECHNA35844 | ||
| 115381608 | SALFA43632 | ||
| 854762 | SGD:S000001311 | ||
| 103734389 | NANGA00864 | ||
| 116444571 | CORMO22058 |
